Gene
ctns
- ID
- ZDB-GENE-050522-352
- Name
- cystinosin, lysosomal cystine transporter
- Symbol
- ctns Nomenclature History
- Previous Names
-
- zgc:110194
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have L-cystine transmembrane transporter activity. Involved in glomerular filtration; regulation of autophagy; and renal absorption. Predicted to localize to lysosomal membrane. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110194 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 25 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cystinosis | Alliance | Cystinosis, atypical nephropathic | 219800 |
| cystinosis | Alliance | Cystinosis, late-onset juvenile or adolescent nephropathic | 219900 |
| cystinosis | Alliance | Cystinosis, nephropathic | 219800 |
| cystinosis | Alliance | Cystinosis, ocular nonnephropathic | 219750 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Lysosomal cystine transporter | PQ-loop repeat |
|---|---|---|---|
|
UniProtKB:Q503T0
|
384 |
Interactions and Pathways
No data available
Plasmids
No data available